MONDO:0002321 |
MONDO:0002321
Disease Name: sensory peripheral neuropathy
All associated enzymes in DAR:
SPTLC3
. The disease is also associated to other non-enzyme proteins (not in DAR).
SPTLC3 |
Q9NUV7 |
2.3.1.50
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428127
(
R-HSA-1660661
)
R-HSA-428127
Reaction Name: palmitoyl-CoA + serine => 3-ketosphinganine + CoASH + CO2
See in Reactome
|
MONDO:0007470 |
SGMS2 |
Q8NHU3 |
2.7.8.27
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-429786
(
R-HSA-1660661
)
R-HSA-429786
Reaction Name: phosphatidylcholine + ceramide <=> sphingomyelin + diacylglycerol [SGMS2]
See in Reactome
|
MONDO:0008086 |
SPTLC1 |
O15269 |
2.3.1.50
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428127
(
R-HSA-1660661
)
R-HSA-428127
Reaction Name: palmitoyl-CoA + serine => 3-ketosphinganine + CoASH + CO2
See in Reactome
|
MONDO:0010031 |
ALDH3A2 |
P51648 |
1.2.1.3
1.2.1.94
|
R-HSA-9603798
R-HSA-9603798
Reactome Name: Class I peroxisomal membrane protein import
See in Reactome
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
R-HSA-9696270
R-HSA-9696273
R-HSA-9609523
R-HSA-9609523
Reactome Name: Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
See in Reactome
R-HSA-389599
|
R-HSA-9609507
R-HSA-9012999
R-HSA-390918
R-HSA-194315
R-HSA-428157
R-HSA-1430728
R-HSA-8978868
R-HSA-556833
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-162582
|
Protein localization
Metabolism
Signal Transduction
|
R-HSA-9696266
(
R-HSA-9696270
)
R-HSA-9696271
(
R-HSA-9696273
)
|
MONDO:0012866 |
FA2H |
Q7L5A8 |
1.14.18.-
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-5693761
(
R-HSA-1660661
)
|
MONDO:0013337 |
SPTLC2 |
O15270 |
2.3.1.50
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428127
(
R-HSA-1660661
)
R-HSA-428127
Reaction Name: palmitoyl-CoA + serine => 3-ketosphinganine + CoASH + CO2
See in Reactome
|
MONDO:0014010 |
CERS3 |
Q8IU89 |
2.3.1.24
2.3.1.297
2.3.1.298
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428185
(
R-HSA-1660661
)
R-HSA-428185
Reaction Name: sphinganine + stearyl-CoA => dihydroceramide + CoASH
See in Reactome
|
MONDO:0014545 |
CERS1 |
P27544 |
2.3.1.299
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428185
(
R-HSA-1660661
)
R-HSA-428185
Reaction Name: sphinganine + stearyl-CoA => dihydroceramide + CoASH
See in Reactome
|
MONDO:0014599 |
CERT1 |
Q9Y5P4 |
-
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-429683
(
R-HSA-1660661
)
R-HSA-429683
Reaction Name: CERT1-2 releases its bound ceramide into the membrane of the Golgi apparatus
See in Reactome
R-HSA-429694
(
R-HSA-1660661
)
R-HSA-429694
Reaction Name: CERT1-2 dissociates from the endoplasmic reticulum
See in Reactome
R-HSA-429698
(
R-HSA-1660661
)
R-HSA-429698
(
R-HSA-1660661
)
R-HSA-429698
Reaction Name: PRKD1,2,3 phosphorylates CERT1-2
See in Reactome
R-HSA-429699
(
R-HSA-1660661
)
R-HSA-429714
(
R-HSA-1660661
)
R-HSA-429714
Reaction Name: monophospho-CERT + 2 ATP => multiphospho-CERT + 2 ADP
See in Reactome
R-HSA-429730
(
R-HSA-1660661
)
R-HSA-429730
Reaction Name: multiphospho-CERT:PPM1L:VAPA/B + 3 H2O => CERT:PPM1L:VAPA/B + 3 orthophosphate
See in Reactome
R-HSA-429732
(
R-HSA-1660661
)
R-HSA-429732
Reaction Name: multiphospho-CERT + PPM1L:VAPA/B => multiphospho-CERT:PPM1L:VAPA/B
See in Reactome
|
MONDO:0015626 |
SPTLC1 |
O15269 |
2.3.1.50
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428127
(
R-HSA-1660661
)
R-HSA-428127
Reaction Name: palmitoyl-CoA + serine => 3-ketosphinganine + CoASH + CO2
See in Reactome
|
MONDO:0015626 |
SPTLC2 |
O15270 |
2.3.1.50
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428127
(
R-HSA-1660661
)
R-HSA-428127
Reaction Name: palmitoyl-CoA + serine => 3-ketosphinganine + CoASH + CO2
See in Reactome
|
MONDO:0017167 |
PRKD1 |
Q15139 |
2.7.11.13
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-429698
(
R-HSA-1660661
)
R-HSA-429698
(
R-HSA-1660661
)
R-HSA-429698
Reaction Name: PRKD1,2,3 phosphorylates CERT1-2
See in Reactome
|
MONDO:0017999 |
FA2H |
Q7L5A8 |
1.14.18.-
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-5693761
(
R-HSA-1660661
)
|
MONDO:0032730 |
DEGS1 |
O15121 |
1.14.19.17
5.2.1.-
|
R-HSA-6798695
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-168249
R-HSA-1430728
R-HSA-168256
R-HSA-428157
|
Metabolism
Immune System
|
R-HSA-428259
(
R-HSA-1660661
)
R-HSA-428259
Reaction Name: dihydroceramide + NAD(P)H + H+ + O2 => ceramide + NAD(P)+ + H2O
See in Reactome
R-HSA-6799350
(
R-HSA-6798695
)
R-HSA-6799350
Reaction Name: Exocytosis of specific granule membrane proteins
See in Reactome
|
MONDO:0032762 |
SPNS2 |
Q8IVW8 |
-
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-9695890
(
R-HSA-1660661
)
R-HSA-9695890
Reaction Name: SPNS2 transports S1P from cytosol to extracellular region
See in Reactome
|
MONDO:0033014 |
KDSR |
Q06136 |
1.1.1.102
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428123
(
R-HSA-1660661
)
R-HSA-428123
Reaction Name: 3-ketosphinganine + NADPH + H+ => sphinganine + NADP+
See in Reactome
|
MONDO:0033203 |
SGPL1 |
O95470 |
4.1.2.27
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428676
(
R-HSA-1660661
)
R-HSA-428676
Reaction Name: sphingosine 1-phosphate => phosphoethanolamine + hexadec-2-enal
See in Reactome
R-HSA-428681
(
R-HSA-1660661
)
R-HSA-428681
Reaction Name: sphinganine 1-phosphate => phosphoethanolamine + hexadecanal
See in Reactome
|
MONDO:0044303 |
PRKD1 |
Q15139 |
2.7.11.13
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-429698
(
R-HSA-1660661
)
R-HSA-429698
(
R-HSA-1660661
)
R-HSA-429698
Reaction Name: PRKD1,2,3 phosphorylates CERT1-2
See in Reactome
|
MONDO:0044718 |
ACER3 |
Q9NUN7 |
3.5.1.23
3.5.1.-
|
R-HSA-1660661
R-HSA-1660661
Reactome Name: Sphingolipid de novo biosynthesis
See in Reactome
|
R-HSA-556833
R-HSA-428157
R-HSA-1430728
|
Metabolism
|
R-HSA-428262
(
R-HSA-1660661
)
R-HSA-428262
Reaction Name: phytoceramide + H2O => stearate + phytosphingosine
See in Reactome
|